ESPE Abstracts

Background: Neonatal diabetes mellitus (NDM), either transient (TNDM) or permanent (PNDM), is a rare form of monogenic diabetes, and usually presents in the first 6 months of life.Objective and Hypotheses: To describe the clinical characteristics and molecular genetics of a large Turkish cohort of NDM from a single centre.Method: NDM patients presenting to Diyarbakır Children State Hospital between 2010 and 2013 were prospecti...

Context: Congenital hyperinsulinism (CHI) has two main histological types – diffuse and focal. Diffuse CHI is due to recessive or dominant mutations in ABCC8/KCNJ11. Focal disease is due to somatic maternal allele loss of 11p15 in pancreatic β-cells along with paternally inherited germline ABCC8/KCNJ11 mutation. Fluorine-18 L-3, 4-dihydroxyphenylalanine positron emission tomography computerized tomography (18F DOPA–PET...

Introduction: Previous reports support the hypothesis of an age dependent derangement of the hypothalamus–pituitary axis occurring in PWS subjects. In this context, transition years represent an important phase of growth process when somatic development reaches its completion. In the general population, GH deficiency (GHD) during the transition phase is associated with deterioration of body composition, metabolic alterations and reduced bone mineral density. PWS subjects ...

Background: While GH therapy forms the mainstay of growth promoting treatment for Turner syndrome (TS), adjunctive use of oxandrolone and optimal timing of pubertal induction remain controversial. The previously published interim analysis of this randomised double-blind placebo-controlled trial demonstrated that oxandrolone and pubertal induction at 14y vs 12y significantly increased final height. However, these effects were not additive.Objective: To up...

Background: Low bone mineral density (BMD) is found in up to 50% of adolescents and adults with Prader-Willi syndrome (PWS). High fracture risk has been described in adult PWS patients. This bone fragility could be due to inadequate gonadal hormones levels during pubertal development, and to relative growth hormone insufficiency during childhood and adolescence. However, the mechanism/s of low BMD in PWS have not been clarified.Objective and hypotheses: ...

Background: According to international guidelines Prader-Willi children during GH treatment must be closely monitored by polysomnography, ENT evaluation and IGF1 levels.Objective and hypotheses: The study aims to determine whether the modulation of GH therapy in children and adolescents with Prader-Willi Syndrome with a specific decisional score (POI score; Salvatoni A., Horm Res Paediatr. 2012) changes and to what extent the results of the therapy.<...

Objective: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in children. Early identification and management is crucial to prevent irreversible brain damage. CHI has a heterogeneous clinical presentation, histology and molecular biology. We aim to discuss the clinical characteristics and genotype–phenotype correlations of Turkish CHI patients from a single centre.Design and methods: A total of 15 patients with CHI were recr...

Background: Congenital hyperinsulinism (CHI) is a common cause of hypoglycaemia in neonates, infants and children. CHI is a heterogeneous disease in terms of clinical presentation, genetics and histology.Objective and hypotheses: The aim of this study was to describe the clinical characteristics, genotype–phenotype correlations and treatment outcome of Russian patients with CHI.Method: A total of 90 children with CHI were iden...

Background: Congenital hyperinsulinism (CHI), is the most common cause of severe hypoglycaemia in neonates and infants. The cornerstone of medical therapy is diazoxide. Octreotide, a somatostatin analogue, is the second therapeutic option in diazoxide unresponsive cases. However, due to its short half-life and requirement of multiple daily doses, lack of compliance may cause recurring hypoglycaemia and related neurological deficits, particularly for the family with low socioec...

Background: Different studies have underlined the role of anti-Müllerian hormone (AMH) and inhibin B as markers of the ovarian function in paediatric and adolescent patients with Turner syndrome (TS).Objective and hypotheses: Our study aims to verify the role of AMH in a cohort of patients affected by TS.Method: We analysed 23 TS patients, aged 2–34 years, describing their auxological parameters and the pubertal developme...